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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Osteochondrodysplasias > Achondroplasia
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Osteochondrodysplasias > Achondroplasia
Endocrine System Diseases > Dwarfism > Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Dwarfism > Achondroplasia
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dwarfism > Achondroplasia

Preferred term

Achondroplasia  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Related concepts

Entry terms

  • Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

Scope note

  • An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

In other languages

  • akondroplasia

    Finnish

  • achondroplasia
  • hypochondroplasia
  • hypokondroplasia
  • ruston kasvuhäiriö
  • rustonkasvuhäiriö
  • Akondroplasi

    Swedish

URI

http://www.yso.fi/onto/mesh/D000130

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